| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000199764 |
| Start |
41756778:41756778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.243A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000199764 |
| Start |
41756745:41756745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375592868
|
| CDS Mutation |
c.210C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000199764 |
| Start |
41755645:41755645(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12delC |
| AA Mutation |
p.Ser5GlnfsTer21(p.S5Qfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |